HuGE Literature Finder
Records 1-30
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Complete blood count differences in a cohort of Down syndrome neonates with transient abnormal myelopoiesis screened for GATA1 pathogenic variants.
American journal of medical genetics. Part A 2020 Jul . Orozco-Vela Mireya, Corona-Rivera Alfredo, Cruz-Osorio Rosa Margarita, Mendoza-Maldonado Lucero, Márquez-Mora Aurea, Barba-Barba César Cenobio, Peña-Padilla Christian, Baldomero-López Alejandra, Bobadilla-Morales Lucina, Corona-Rivera Jorge Rom |
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Dihydrofolate Reductase (DHFR) del19bp Polymorphism and Down Syndrome Offspring.
Journal of molecular neuroscience : MN 2020 May . Costa-Lima Marcelo Aguiar, Barboza Hazel Nunes, Aprigio Joissy, de Melo Moura Cláudia, Quirico-Santos Thereza Fonseca, Ribeiro Márcia Gonçalves, Amorim Márcia Rodrigu |
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PNPLA3 gene polymorphism is associated with liver steatosis in children with Down syndrome.
Nutrition, metabolism, and cardiovascular diseases : NMCD 2020 May . Valentini Diletta, Mosca Antonella, Di Camillo Chiara, Crudele Annalisa, Sartorelli Maria Rita, Scoppola Vittorio, Tarani Luigi, Villani Alberto, Raponi Massimiliano, Novelli Antonio, Alisi An |
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Study of the MDM2 -410T-G polymorphism (rs2279744) by pyrosequencing in mothers of Down Syndrome subjects.
Human cell 2020 May . Salemi Michele, Salluzzo Maria Grazia, Barone Concetta, Romano Corra |
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Polymorphisms of the MTHFR gene in mothers of children with trisomy 21 (Down syndrome) in a Polish population.
Advances in clinical and experimental medicine : official organ Wroclaw Medical University 2020 Feb . Czechowicz Paulina, Malodobra-Mazur Malgorzata, Lebioda Arleta, Jonkisz Anna, Dobosz Tadeusz, Smigiel Robe |
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Choroid Plexus Acts as Gatekeeper for TREM2, Abnormal Accumulation of ApoE, and Fibrillary Tau in Alzheimer's Disease and in Down Syndrome Dementia.
Journal of Alzheimer's disease : JAD 2019 Mar . Raha-Chowdhury Ruma, Henderson James W, Raha Animesh Alexander, Vuono Romina, Bickerton Anastasia, Jones Elizabeth, Fincham Robert, Allinson Kieren, Holland Anthony, Zaman Shahid |
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Genetic variation associated with chromosomal aberration frequency: A genome-wide association study.
Environmental and molecular mutagenesis 2019 01 60 (1): 17-28. Niazi Yasmeen, Thomsen Hauke, Smolkova Bozena, Vodickova Ludmila, Vodenkova Sona, Kroupa Michal, Vymetalkova Veronika, Kazimirova Alena, Barancokova Magdalena, Volkovova Katarina, Staruchova Marta, Hoffmann Per, Nöthen Markus M, Dušinská Maria, Musak Ludovit, Vodicka Pavel, Hemminki Kari, Försti As |
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The association between maternal methylenetetrahydrofolate reductase C677T and A1298C polymorphism and birth defects and adverse pregnancy outcomes.
Prenatal diagnosis 2019 01 39 (1): 3-9. Zhang Yuan, He Xia, Xiong Xuan, Chuan Junlan, Zhong Lei, Chen Guo, Yu Dong |
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Targeted Next-Generation Sequencing of 406 Genes Identified Genetic Defects Underlying Congenital Heart Disease in Down Syndrome Patients.
Pediatric cardiology 2018 Aug . Alharbi Khalid M, Al-Mazroea Abdelhadi H, Abdallah Atiyeh M, Almohammadi Yousef, Carlus S Justin, Basit Sulm |
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Association between DSCAM polymorphisms and non-syndromic Hirschsprung disease in Chinese population.
BMC medical genetics 2018 Jul 19 (1): 116. Wang Yong, He Qiuming, Zhang Ruizhong, Zhong Wei, Zhu Deli, Zhang Yan, Xia Huim |
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Patterns and severity of vascular amyloid in Alzheimer's disease associated with duplications and missense mutations in APP gene, Down syndrome and sporadic Alzheimer's disease.
Acta neuropathologica 2018 May . Mann David M A, Davidson Yvonne S, Robinson Andrew C, Allen Nancy, Hashimoto Tadafumi, Richardson Anna, Jones Matthew, Snowden Julie S, Pendleton Neil, Potier Marie-Claude, Laquerrière Annie, Prasher Vee, Iwatsubo Takeshi, Strydom And |
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The Association of rs1670533 Polymorphism in RNF212 Gene With the Risk of Down Syndrome in Young Women.
Journal of family & reproductive health 2018 Mar 12 (1): 18-22. Davari-Tanha Fatemeh, Kaveh Mahbod, Ebrahimi Ahmad, Mirzaei Maryam, Shariat Mamak, Shahraki Zah |
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DNA (cytosine-5)-methyltransferase 3B (DNMT 3B) polymorphism and risk of Down syndrome offspring.
Saudi journal of biological sciences 2018 Jan 25 (1): 101-104. Moura Cláudia Melo de, Bastos Pedro Ribeiro, Ribeiro Julyana S V, Ribeiro Márcia Gonçalves, Amorim Márcia Rodrigues, Costa-Lima Marcelo Agui |
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Genetic polymorphisms in folate metabolism as risk for Down syndrome in the southern China.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2018 Jan 1-6. Jiajin Lin, Shuyan Cao, Ying Wu, Junxiao Chen, Xiudi Wa |
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Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects.
G3 (Bethesda, Md.) 2018 01 8 (1): 105-111. Rambo-Martin Benjamin L, Mulle Jennifer G, Cutler David J, Bean Lora J H, Rosser Tracie C, Dooley Kenneth J, Cua Clifford, Capone George, Maslen Cheryl L, Reeves Roger H, Sherman Stephanie L, Zwick Michael |
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Interleukin 6 and 10 Serum Levels and Genetic Polymorphisms in Children with Down Syndrome.
Mediators of inflammation 2018 2018 6539548. Mattos Marlon Fraga, Biselli-Chicote Patrícia Matos, Biselli Joice Matos, da Silva Assembleia Thiago Luís, Goloni-Bertollo Eny Maria, Pavarino Érika Cristi |
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Erythromyeloid-Derived TREM2: A Major Determinant of Alzheimer's Disease Pathology in Down Syndrome.
Journal of Alzheimer's disease : JAD 2017 Dec . Raha-Chowdhury Ruma, Henderson James W, Raha Animesh Alexander, Stott Simon R W, Vuono Romina, Foscarin Simona, Wilson Liam, Annus Tiina, Fincham Robert, Allinson Kieren, Devalia Vinod, Friedland Robert P, Holland Anthony, Zaman Shahid |
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MTHFR A1298C polymorphisms reduce the risk of congenital heart defects: a meta-analysis from 16 case-control studies.
Italian journal of pediatrics 2017 Dec 43 (1): 108. Yu Di, Zhuang Zhulun, Wen Zhongyuan, Zang Xiaodong, Mo Xumi |
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MTHFR promoter hypermethylation may lead to congenital heart defects in Down syndrome.
Intractable & rare diseases research 2017 Nov 6 (4): 295-298. Asim Ambreen, Agarwal Sarita, Panigrahi Inusha, Saiyed Nazia, Bakshi Son |
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Screening of six polymorphisms related with folate metabolism in parents of individuals with Down syndrome.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2017 Nov 1-191. Balarin Marly, Cintra Mariângela, Cordeiro Fernanda, Naves Lucila, Silva-Grecco Rosea |
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Association between polymorphisms in folate metabolism genes and maternal risk for Down syndrome: A meta-analysis.
Molecular and clinical oncology 2017 Sep 7 (3): 367-377. Gu Yanqi |
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Polymorphisms of interleukin 6 in Down syndrome individuals: a case-control study.
Genetics and molecular research : GMR 2017 Aug 16 (3): . Mattos M F, Uback L, Biselli-Chicote P M, Biselli J M, Goloni-Bertollo E M, Pavarino E |
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Combined association of Presenilin-1 and Apolipoprotein E polymorphisms with maternal meiosis II error in Down syndrome births.
Genetics and molecular biology 2017 Jul 0. Bhaumik Pranami, Ghosh Priyanka, Ghosh Sujay, Feingold Eleanor, Ozbek Umut, Sarkar Biswanath, Dey Subrata Kum |
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Candidate gene analysis for Alzheimer's disease in adults with Down syndrome.
Neurobiology of aging 2017 May . Lee Joseph H, Lee Annie J, Dang Lam-Ha, Pang Deborah, Kisselev Sergey, Krinsky-McHale Sharon J, Zigman Warren B, Luchsinger José A, Silverman Wayne, Tycko Benjamin, Clark Lorraine N, Schupf Nico |
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Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease.
Alzheimer's & dementia : the journal of the Alzheimer's Association 2017 Apr . Carmona-Iragui María, Balasa Mircea, Benejam Bessy, Alcolea Daniel, Fernández Susana, Videla Laura, Sala Isabel, Sánchez-Saudinos María Belén, Morenas-Rodriguez Estrella, Ribosa-Nogué Roser, Illán-Gala Ignacio, Gonzalez-Ortiz Sofía, Clarimón Jordi, Schmitt Frederick, Powell David K, Bosch Beatriz, Lladó Albert, Rafii Michael, Head Elizabeth, Molinuevo José Luis, Blesa Rafael, Videla Sebastián, Lleó Alberto, Sánchez-Valle Raquel, Fortea Ju |
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A polymorphism (rs1042522) in TP53 gene is a risk factor for Down Syndrome in Sicilian mothers.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2016 Dec 1-3. Salemi Michele, Barone Concetta, Salluzzo Maria Grazia, Giambirtone Mariaconcetta, Scillato Francesco, Galati Rando Rosanna, Romano Carmelo, Morale Maria Concetta, Ridolfo Federico, Romano Corra |
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Characterisation of the Genomic Landscape of CRLF2-rearranged Acute Lymphoblastic Leukemia.
Genes, chromosomes & cancer 2016 Dec . Russell Lisa J, Jones Lisa, Enshaei Amir, Tonin Stefano, Ryan Sarra L, Eswaran Jeyanthy, Nakjang Sirintra, Papaemmanuil Elli, Tubio Jose M C, Fielding Adele K, Vora Ajay, Campbell Peter J, Moorman Anthony V, Harrison Christine |
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Variation in the Zinc Finger of PRDM9 is Associated with the Absence of Recombination along Nondisjoined Chromosomes 21 of Maternal Origin.
Journal of Down Syndrome & chromosome abnormalities 2016 Dec 2 (2): . Oliver Tiffany Renee, Middlebrooks Candace, Harden Ariel, Scott Nyeisha, Johnson Blair, Jones Jillian, Walker Christin, Wilkerson Corinthia, Saffold Sha-Hanna, Akinseye Abisola, Smith Tunde, Feingold Eleanor, Sherman Stephanie |
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Choline metabolic pathway gene polymorphisms and risk for Down syndrome: An association study in a population with folate-homocysteine metabolic impairment.
European journal of clinical nutrition 2016 Sep . Jaiswal S K, Sukla K K, Chauhan A, Lakhotia A R, Kumar A, Rai A |
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Maternal MTHFR polymorphism (677 C-T) and risk of Down's syndrome child: meta-analysis.
Journal of genetics 2016 Sep 95 (3): 505-13. Kaur Amandeep, Kaur Anup |
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Proteolytic Cleavage of Apolipoprotein E in the Down Syndrome Brain.
Aging and disease 2016 May 7 (3): 267-77. Day Ryan J, McCarty Katie L, Ockerse Kayla E, Head Elizabeth, Rohn Troy |
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Copy Number Variation Sequencing Based Prenatal Diagnosis Using Cell-Free Fetal DNA in Amniotic Fluid.
Prenatal diagnosis 2016 Apr . Qi Qingwei, Lu Sijia, Zhou Xiya, Yao Fengxia, Hao Na, Yin Guangjun, Li Wenhui, Bai Junjie, Li Ning, Cram David |
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The genetic landscape of paediatric de novo acute myeloid leukaemia as defined by single nucleotide polymorphism array and exon sequencing of 100 candidate genes.
British journal of haematology 2016 Mar . Olsson Linda, Zettermark Sofia, Biloglav Andrea, Castor Anders, Behrendtz Mikael, Forestier Erik, Paulsson Kajsa, Johansson Bert |
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Increased MTHFR promoter methylation in mothers of Down syndrome individuals.
Mutation research 2016 Feb 787 1-6. Coppedè Fabio, Denaro Maria, Tannorella Pierpaola, Migliore Luc |
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Molecular Characterization of Pediatric Acute Myeloid Leukemia: Results of a Multicentric Study in Brazil.
Archives of medical research 2016 11 47 (8): 656-667. Andrade Francianne Gomes, Noronha Elda Pereira, Brisson Gisele Dallapicola, Dos Santos Vicente Bueno Filipe, Cezar Ingrid Sardou, Terra-Granado Eugênia, Thuler Luiz Claudio Santos, Pombo-de-Oliveira Maria S, |
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VNTR-DAT1 and COMTVal158Met Genotypes Modulate Mental Flexibility and Adaptive Behavior Skills in Down Syndrome.
Frontiers in behavioral neuroscience 2016 10 193. Del Hoyo Laura, Xicota Laura, Langohr Klaus, Sánchez-Benavides Gonzalo, de Sola Susana, Cuenca-Royo Aida, Rodriguez Joan, Rodríguez-Morató Jose, Farré Magí, Dierssen Mara, de la Torre Rafael, |
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Association Between Sequence Variations in RCAN1 Promoter and the Risk of Sporadic Congenital Heart Disease in a Chinese Population.
Pediatric cardiology 2015 Oct 36 (7): 1393-9. Li Xiaoyong, Wang Gang, An Yong, Li Hongbo, Li Yonggang, Wu Ch |
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Early onset of moyamoya syndrome in a Down syndrome patient with the genetic variant RNF213 p.R4810K.
Brain & development 2015 Sep 37 (8): 822-4. Chong Pin Fee, Ogata Reina, Kobayashi Hatasu, Koizumi Akio, Kira Ryuta |
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[Noninvasive prenatal screen of trisomy-21 using maternal plasma fetal free RNA allelic ratio].
Zhonghua fu chan ke za zhi 2015 Aug 50 (8): 568-75. Xu Yajuan, Zhai Shanshan, Luo Xiaohua, Zhang Yingying, Ran Limin, Ren Lid |
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Clinical experience and follow-up with large-scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing.
American journal of obstetrics and gynecology 2015 Aug 213 (2): 253. Singh Onkar Na |
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Role of folate-homocysteine pathway gene polymorphisms and nutritional cofactors in Down syndrome: A triad study.
Human reproduction (Oxford, England) 2015 Aug 30 (8): 1982-93. Sukla K K, Jaiswal S K, Rai A K, Mishra O P, Gupta V, Kumar A, Raman |
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Birth Characteristics and Childhood Leukemia Risk: Correlations With Genetic Markers.
Journal of pediatric hematology/oncology 2015 Jul 37 (5): e301-7. Kennedy Amy E, Kamdar Kala Y, Lupo Philip J, Okcu Mehmet F, Scheurer Michael E, Dorak Mehmet |
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Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defects.
Genetics in medicine : official journal of the American College of Medical Genetics 2015 Jul 17 (7): 554-60. Ramachandran Dhanya, Mulle Jennifer G, Locke Adam E, Bean Lora J H, Rosser Tracie C, Bose Promita, Dooley Kenneth J, Cua Clifford L, Capone George T, Reeves Roger H, Maslen Cheryl L, Cutler David J, Sherman Stephanie L, Zwick Michael |
Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects.
G3 (Bethesda, Md.) 2015 Jul . Ramachandran Dhanya, Zeng Zhen, Locke Adam E, Mulle Jennifer G, Bean Lora J H, Rosser Tracie C, Dooley Kenneth J, Cua Clifford L, Capone George T, Reeves Roger H, Maslen Cheryl L, Cutler David J, Feingold Eleanor, Sherman Stephanie L, Zwick Michael |
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Somatic thrombopoietin (THPO) gene mutations in childhood myeloid leukemias.
International journal of hematology 2015 Jul 102 (1): 140-3. Houwing Maite E, Koopman-Coenen Eva A, Kersseboom Rogier, Gooskens Saskia, Appel Inge M, Arentsen-Peters Susan T C J M, de Vries Andrica C H, Reinhardt Dirk, Stary Jan, Baruchel André, de Haas Valerie, Blink Marjolein, Lopes Cardozo Rob H, Pieters Rob, Michel Zwaan C, van den Heuvel-Eibrink Marry |
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[Association of MTHFR and MTRR genes polymorphisms with non-disjunctions of chromosomes 18 and 21].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2015 Jun 32 (3): 395-9. Guo Qiannan, Wang Hongdan, Yang Ke, Zhang Bo, Li Tao, Liao Shix |
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Folate metabolism gene polymorphisms and risk for down syndrome offspring in Turkish women.
Genetic testing and molecular biomarkers 2015 Apr 19 (4): 191-7. Izci Ay Ozlem, Ay Mustafa Ertan, Erdal Mehmet Emin, Cayan Filiz, Tekin Sevinc, Soylemez Fatma, Sungur Mehmet Ali, Derici Y?ld?r?m Did |
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Germline mutations in NKX2-5, GATA4, and CRELD1 are rare in a Mexican sample of Down syndrome patients with endocardial cushion and septal heart defects.
Pediatric cardiology 2015 Apr 36 (4): 802-8. Alcántara-Ortigoza Miguel A, De Rubens-Figueroa Jesús, Reyna-Fabian Miriam E, Estandía-Ortega Bernardette, González-del Angel Ariadna, Molina-Álvarez Bertha, Velázquez-Aragón José A, Villagómez-Martínez Sandra, Pereira-López Gabriela I, Cruz-Martínez Víctor, Álvarez-Gómez Rosa M, García-Díaz Lui |
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Maternal risk for down syndrome and polymorphisms in the promoter region of the DNMT3B gene: a case-control study.
Birth defects research. Part A, Clinical and molecular teratology 2015 Apr 103 (4): 299-305. Jaiswal Sushil Kumar, Sukla Krishna Kishore, Kumari Neha, Lakhotia Anjali Rani, Kumar Ashok, Rai Amit Kum |
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DYRK1A mutations in two unrelated patients.
European journal of medical genetics 2015 Mar 58 (3): 168-74. Ruaud Lyse, Mignot Cyril, Guët Agnès, Ohl Christelle, Nava Caroline, Héron Delphine, Keren Boris, Depienne Christel, Benoit Valérie, Maystadt Isabelle, Lederer Damien, Amsallem Daniel, Piard Juliet |
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Attitude of families of patients with genetic diseases to use m-health technologies.
Telemedicine journal and e-health : the official journal of the American Telemedicine Association 2015 Feb 21 (2): 86-9. Tozzi Alberto E, Carloni Emanuela, Gesualdo Francesco, Russo Luisa, Raponi Massimilia |
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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.
Molecular psychiatry 2015 Feb . van Bon B W M, Coe B P, Bernier R, Green C, Gerdts J, Witherspoon K, Kleefstra T, Willemsen M H, Kumar R, Bosco P, Fichera M, Li D, Amaral D, Cristofoli F, Peeters H, Haan E, Romano C, Mefford H C, Scheffer I, Gecz J, de Vries B B A, Eichler E |
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Altered LINE-1 Methylation in Mothers of Children with Down Syndrome.
PloS one 2015 10 (5): e0127423. Božovi? Ivana Babi?, Stankovi? Aleksandra, Živkovi? Maja, Vranekovi? Jadranka, Kapovi? Miljenko, Brajenovi?-Mili? Boja |
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Association Between DSCR1 Variations and Congenital Heart Disease Susceptibility.
Medical science monitor : international medical journal of experimental and clinical research 2015 21 3536-9. Guo Ren Yu, Li Xiao Feng, Bai Song, Guo Jian, Ding Nan, Li Zhong Z |
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Genetic analysis of STR markers on chromosome 21 in a Han population from southeast China.
Genetics and molecular research : GMR 2015 14 (1): 1718-25. Zhu Y N, Lu S M, Wang M, Shen F X, Chen Y, Hu J |
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Serum NGAL is Associated with Distinct Plasma Amyloid-? Peptides According to the Clinical Diagnosis of Dementia in Down Syndrome.
Journal of Alzheimer's disease : JAD 2015 45 (3): 733-43. Naudé Petrus J W, Dekker Alain D, Coppus Antonia M W, Vermeiren Yannick, Eisel Ulrich L M, van Duijn Cornelia M, Van Dam Debby, De Deyn Peter |
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The down syndrome biomarker initiative (DSBI) pilot: proof of concept for deep phenotyping of Alzheimer's disease biomarkers in down syndrome.
Frontiers in behavioral neuroscience 2015 9 239. Rafii Michael S, Wishnek Hannah, Brewer James B, Donohue Michael C, Ness Seth, Mobley William C, Aisen Paul S, Rissman Robert |
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Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing.
American journal of obstetrics and gynecology 2014 Nov 211 (5): 527.e1-527.e17. Dar Pe'er, Curnow Kirsten J, Gross Susan J, Hall Megan P, Stosic Melissa, Demko Zachary, Zimmermann Bernhard, Hill Matthew, Sigurjonsson Styrmir, Ryan Allison, Banjevic Milena, Kolacki Paula L, Koch Susan W, Strom Charles M, Rabinowitz Matthew, Benn Pet |
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Gene alterations involving the CRLF2-JAK pathway and recurrent gene deletions in Down syndrome-associated acute lymphoblastic leukemia in Japan.
Genes, chromosomes & cancer 2014 Nov 53 (11): 902-10. Hanada Isamu, Terui Kiminori, Ikeda Fumika, Toki Tsutomu, Kanezaki Rika, Sato Tomohiko, Kamio Takuya, Kudo Ko, Sasaki Shinya, Takahashi Yoshihiro, Hayashi Yasuhide, Inukai Takeshi, Kojima Seiji, Koike Kenichi, Kosaka Yoshiyuki, Kobayashi Masao, Imaizumi Masue, Mitsui Tetsuo, Hori Hiroki, Hara Junichi, Horibe Keizo, Nagai Jun-ichi, Goto Hiroaki, Ito Etsu |
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HLA antigens in individuals with down syndrome and alopecia areata.
World journal of clinical cases 2014 Oct 2 (10): 541-5. Estefan Juliany L, Oliveira Juliana C, Abad Eliane D, Saintive Simone B, Porto Luis Cristóvão Ms, Ribeiro Marc |
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The MTRR 66A>G polymorphism and maternal risk of birth of a child with Down syndrome in Caucasian women: a case-control study and a meta-analysis.
Molecular biology reports 2014 Sep 41 (9): 5571-83. Coppedè Fabio, Bosco Paolo, Lorenzoni Valentina, Denaro Maria, Anello Guido, Antonucci Ivana, Barone Concetta, Stuppia Liborio, Romano Corrado, Migliore Luc |
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Meta-analysis of Methylenetetrahydrofolate reductase maternal gene in Down syndrome: increased susceptibility in women carriers of the MTHFR 677T allele.
Molecular biology reports 2014 Aug 41 (8): 5491-504. Victorino D B, Godoy M F, Goloni-Bertollo E M, Pavarino E |
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Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort.
Obstetrics and gynecology 2014 Aug 124 (2 Pt 1): 210-8. Pergament Eugene, Cuckle Howard, Zimmermann Bernhard, Banjevic Milena, Sigurjonsson Styrmir, Ryan Allison, Hall Megan P, Dodd Michael, Lacroute Phil, Stosic Melissa, Chopra Nikhil, Hunkapiller Nathan, Prosen Dennis E, McAdoo Sallie, Demko Zachary, Siddiqui Asim, Hill Matthew, Rabinowitz Matth |
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Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome.
Neurobiology of aging 2014 Jun 35 (6): 1513.e1-5. Mok Kin Y, Jones Emma L, Hanney Marisa, Harold Denise, Sims Rebecca, Williams Julie, Ballard Clive, Hardy Jo |
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Methylenetetrahydrofolate reductase polymorphism is not risk factor for Down syndrome in North India.
Indian journal of human genetics 2014 Apr 20 (2): 142-7. Rai Vandana, Yadav Upendra, Kumar Pradeep, Yadav Sushil Kum |
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Application of multiplex SNaPshot assay in measurement of PLAC4 RNA-SNP allelic ratio for noninvasive prenatal detection of trisomy 21.
Prenatal diagnosis 2014 Feb 34 (2): 139-44. Yang Lan, Sun Haiyan, Chen Daozhen, Lu Mudan, Wang Junfeng, Xu Fei, Hu Lingqing, Xiao Jianp |
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Combined folate gene MTHFD and TC polymorphisms as maternal risk factors for Down syndrome in China.
Genetics and molecular research : GMR 2014 13 (1): 1764-73. Liao Y P, Zhang D, Zhou W, Meng F M, Bao M S, Xiang P, Liu C |
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Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations.
Nature communications 2014 5 4654. Nikolaev Sergey I, Garieri Marco, Santoni Federico, Falconnet Emilie, Ribaux Pascale, Guipponi Michel, Murray Aoife, Groet Jürgen, Giarin Emanuela, Basso Giuseppe, Nizetic Dean, Antonarakis Stylianos |
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Genetic polymorphisms involved in folate metabolism and maternal risk for down syndrome: a meta-analysis.
Disease markers 2014 2014 517504. Balduino Victorino Daniella, de Godoy Moacir Fernandes, Goloni-Bertollo Eny Maria, Pavarino Érika Cristi |
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Genetic variants conferring susceptibility to Alzheimer's disease in the general population; do they also predispose to dementia in Down's syndrome.
BMC research notes 2014 7 (1): 42. Patel Ashok, Rees Simon D, Kelly M Ann, Bain Stephen C, Barnett Anthony H, Prasher Anisha, Arshad Humaria, Prasher Vee |
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Maternal methylenetetrahydrofolate reductase C677T polymorphism and down syndrome risk: a meta-analysis from 34 studies.
PloS one 2014 9 (9): e108552. Rai Vandana, Yadav Upendra, Kumar Pradeep, Yadav Sushil Kumar, Mishra Om Prake |
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GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia.
Blood 2013 Dec 122 (24): 3908-17. Roberts Irene, Alford Kate, Hall Georgina, Juban Gaetan, Richmond Helen, Norton Alice, Vallance Grant, Perkins Kelly, Marchi Emanuele, McGowan Simon, Roy Anindita, Cowan Gillian, Anthony Mark, Gupta Amit, Ho John, Uthaya Sabita, Curley Anna, Rasiah Shree Vishna, Watts Timothy, Nicholl Richard, Bedford-Russell Alison, Blumberg Raoul, Thomas Angela, Gibson Brenda, Halsey Chris, Lee Pek-Wan, Godambe Sunit, Sweeney Connor, Bhatnagar Neha, Goriely Anne, Campbell Peter, Vyas Paresh, |
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The MTR 2756A>G polymorphism and maternal risk of birth of a child with Down syndrome: a case-control study and a meta-analysis.
Molecular biology reports 2013 Dec 40 (12): 6913-25. Coppedè Fabio, Bosco Paolo, Lorenzoni Valentina, Migheli Francesca, Barone Concetta, Antonucci Ivana, Stuppia Liborio, Romano Corrado, Migliore Luc |
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Maternal gene polymorphisms involved in folate metabolism and the risk of having a Down syndrome offspring: a meta-analysis.
Mutagenesis 2013 Nov 28 (6): 661-71. Yang Mei, Gong Tian, Lin Xiaofang, Qi Ling, Guo Yiyang, Cao Zhongqiang, Shen Min, Du Yuk |
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[Rapid screening for MTHFR gene 677C>T polymorphism in Down syndrome using high resolution melting curve and pyrosequencing].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2013 Oct 30 (5): 528-33. Sun Jing-jing, Shen Yun-lin, Yan Chong-bing, Chen Yi-huan, Gong Xiao-h |
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Evidence that PICALM affects age at onset of Alzheimer's dementia in Down syndrome.
Neurobiology of aging 2013 Oct 34 (10): 2441.e1-5. Jones Emma L, Mok Kin, Hanney Marisa, Harold Denise, Sims Rebecca, Williams Julie, Ballard Cli |
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Prevalence of methylenetetrahydrofolate reductase 677 C-T polymorphism among mothers of Down syndrome children.
Indian journal of human genetics 2013 Oct 19 (4): 412-4. Kaur Anupam, Kaur Amande |
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The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.
Genome research 2013 Sep 23 (9): 1410-21. Sailani M Reza, Makrythanasis Periklis, Valsesia Armand, Santoni Federico A, Deutsch Samuel, Popadin Konstantin, Borel Christelle, Migliavacca Eugenia, Sharp Andrew J, Duriaux Sail Genevieve, Falconnet Emilie, Rabionet Kelly, Serra-Juhé Clara, Vicari Stefano, Laux Daniela, Grattau Yann, Dembour Guy, Megarbane Andre, Touraine Renaud, Stora Samantha, Kitsiou Sofia, Fryssira Helena, Chatzisevastou-Loukidou Chariklia, Kanavakis Emmanouel, Merla Giuseppe, Bonnet Damien, Pérez-Jurado Luis A, Estivill Xavier, Delabar Jean M, Antonarakis Stylianos |
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Betaine-homocysteine methyltransferase 742G>A polymorphism and risk of down syndrome offspring in a Brazilian population.
Molecular biology reports 2013 Aug 40 (8): 4685-9. Amorim Márcia R, Moura Cláudia M, Gomes Aline D, Barboza Hazel N, Lopes Roberta B, Ribeiro Márcia G, Costa Lima Marcelo |
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Polymorphisms in genes RFC-1/CBS as maternal risk factors for Down syndrome in China.
Archives of gynecology and obstetrics 2013 Aug 288 (2): 273-7. Wang Shao-shuai, Wang Chao, Qiao Fu-yuan, Lv Juan-juan, Feng Li |
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The reduced folate carrier (RFC-1) 80A>G polymorphism and maternal risk of having a child with Down syndrome: a meta-analysis.
Nutrients 2013 Jul 5 (7): 2551-63. Coppedè Fabio, Lorenzoni Valentina, Migliore Luc |
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[Practicality of rapid prenatal screening for Down syndrome with PCR-short tandem repeat method].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2013 Jun 30 (3): 277-82. Guan Lixue, Ren Cuiai, Li Haibo, Gao Li, Jia Nan, Guan H |
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IKZF1 deletion is associated with a poor outcome in pediatric B-cell precursor acute lymphoblastic leukemia in Japan.
Cancer medicine 2013 Jun 2 (3): 412-9. Asai Daisuke, Imamura Toshihiko, Suenobu So-ichi, Saito Akiko, Hasegawa Daiichiro, Deguchi Takao, Hashii Yoshiko, Matsumoto Kimikazu, Kawasaki Hirohide, Hori Hiroki, Iguchi Akihiro, Kosaka Yoshiyuki, Kato Koji, Horibe Keizo, Yumura-Yagi Keiko, Hara Junichi, Oda Megumi, |
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DHFR 19-bp deletion and SHMT C1420T polymorphisms and metabolite concentrations of the folate pathway in individuals with Down syndrome.
Genetic testing and molecular biomarkers 2013 Apr 17 (4): 274-7. Mendes Cristiani Cortez, Raimundo Aline Maria Zanchetta de Aquino, Oliveira Luciana Dutra, Zampieri Bruna Lancia, Marucci Gustavo Henrique, Biselli Joice Matos, Goloni-Bertollo Eny Maria, Eberlin Marcos Nogueira, Haddad Renato, Riccio Maria Francesca, Vannucchi Hélio, Carvalho Valdemir Melechco, Pavarino Érika Cristi |
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Functional variant in methionine synthase reductase decreases the risk of Down syndrome in China.
The journal of obstetrics and gynaecology research 2013 Feb 39 (2): 511-5. Wang Shao-Shuai, Feng Ling, Qiao Fu-Yuan, Lv Juan-Ju |
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Folate metabolism gene polymorphisms MTHFR C677T and A1298C and risk for Down syndrome offspring: a meta-analysis.
European journal of obstetrics, gynecology, and reproductive biology 2013 Jan . Wu X, Wang X, Chan Y, Jia S, Luo Y, Tang W |
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MTRR 66A>G polymorphism as maternal risk factor for Down syndrome: a meta-analysis.
Genetic testing and molecular biomarkers 2013 Jan 17 (1): 69-73. Amorim Márcia R, Lima Marcelo A Cos |
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Potential contribution of SIM2 and ETS2 functional polymorphisms in Down syndrome associated malignancies.
BMC medical genetics 2013 Jan 14 (1): 1. Chatterjee A, Dutta S, Mukherjee S, Mukherjee N, Dutta A, Mukherjee A, Sinha S, Panda CK, Chaudhuri K, Roy AL, Mukhopadhyay K |
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Analysis of GATA1 mutations and leukemogenesis in newborns with Down syndrome.
Genetics and molecular research : GMR 2013 12 (4): 4630-8. Queiroz L B, Lima B D, Mazzeu J F, Camargo R, Córdoba M S, Q Magalhães I, Martins-de-Sá C, Ferrari |
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Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669.
Frontiers in genetics 2013 4 57. Dey Arpita, Bhowmik Krishnendu, Chatterjee Arpita, Chakrabarty Pit Baran, Sinha Swagata, Mukhopadhyay Kanch |
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APP mutations in the A? coding region are associated with abundant cerebral deposition of A?38.
Acta neuropathologica 2012 Dec 124 (6): 809-21. Moro Maria Luisa, Giaccone Giorgio, Lombardi Raffaella, Indaco Antonio, Uggetti Andrea, Morbin Michela, Saccucci Stefania, Di Fede Giuseppe, Catania Marcella, Walsh Dominic M, Demarchi Andrea, Rozemuller Annemieke, Bogdanovic Nenad, Bugiani Orso, Ghetti Bernardino, Tagliavini Fabriz |
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Early-Onset, Coexisting Autoimmunity and Decreased HLA-Mediated Susceptibility Are the Characteristics of Diabetes in Down Syndrome.
Diabetes care 2012 Dec . Aitken RJ, Mehers KL, Williams AJ, Brown J, Bingley PJ, Holl RW, Rohrer TR, Schober E, Abdul-Rasoul MM, Shield JP, Gillespie KM |
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Association of methylenetetrahydrofolate reductase gene 677C > T polymorphism and Down syndrome.
Molecular biology reports 2012 Nov . Costa-Lima MA, Amorim MR, Orioli IM |
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Polymorphic haplotypes of CRELD1 differentially predispose Down syndrome and euploids individuals to atrioventricular septal defect.
American journal of medical genetics. Part A 2012 Nov 158A (11): 2843-8. Ghosh Priyanka, Bhaumik Pranami, Ghosh Sujoy, Ozbek Umut, Feingold Eleanor, Maslen Cheryl, Sarkar Biswanath, Pramanik Vishmadeb, Biswas Priyanka, Bandyopadhyay Biswajit, Dey Subrata Kum |
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An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.
American journal of human genetics 2012 Oct 91 (4): 646-59. Ackerman Christine, Locke Adam E, Feingold Eleanor, Reshey Benjamin, Espana Karina, Thusberg Janita, Mooney Sean, Bean Lora J H, Dooley Kenneth J, Cua Clifford L, Reeves Roger H, Sherman Stephanie L, Maslen Cheryl |
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DNMT3B promoter polymorphisms and maternal risk of birth of a child with Down syndrome.
Human reproduction (Oxford, England) 2012 Oct . Coppedè F, Bosco P, Tannorella P, Romano C, Antonucci I, Stuppia L, Romano C, Migliore L |
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Genetic polymorphisms modulate the folate metabolism of Brazilian individuals with Down syndrome.
Molecular biology reports 2012 Oct 39 (10): 9277-84. Biselli J M, Zampieri B L, Goloni-Bertollo E M, Haddad R, Fonseca M F R, Eberlin M N, Vannucchi H, Carvalho V M, Pavarino E |
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High WT1 mRNA expression after induction chemotherapy and FLT3-ITD have prognostic impact in pediatric acute myeloid leukemia: a study of the Japanese Childhood AML Cooperative Study Group.
International journal of hematology 2012 Oct 96 (4): 469-76. Shimada Akira, Taki Tomohiko, Koga Daisuke, Tabuchi Ken, Tawa Akio, Hanada Ryoji, Tsuchida Masahiro, Horibe Keizo, Tsukimoto Ichiro, Adachi Souichi, Kojima Seiji, Hayashi Yasuhi |
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Maternal SNPs in the p53 pathway: Risk factors for trisomy 21?
Disease markers 2012 Oct . Boquett JA, Brandalize AP, Fraga LR, Schuler-Faccini L |
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Outcome in children with Down's syndrome and acute lymphoblastic leukemia: role of IKZF1 deletions and CRLF2 aberrations.
Leukemia 2012 Oct 26 (10): 2204-11. Buitenkamp T D, Pieters R, Gallimore N E, van der Veer A, Meijerink J P P, Beverloo H B, Zimmermann M, de Haas V, Richards S M, Vora A J, Mitchell C D, Russell L J, Schwab C, Harrison C J, Moorman A V, van den Heuvel-Eibrink M M, den Boer M L, Zwaan C |
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